Prof. Zbigniew Żuber: Newborn screening allows early detection of rare diseases and stops their progression

How do you assess access to modern diagnostics, therapies and medical devices that allow patients to maintain the highest possible quality of life, but also to be socially active?

I must say that we have seen tremendous progress in the availability of new therapies, but also of new technical materials. These are, for example, freeze-dried catheters for children with urinary disorders. It would be worthwhile now to think about extending their availability to people over the age of 18. For someone who has had the opportunity to use high-quality technical tools, going back to bad solutions is very painful, not only figuratively, but also literally. On the other hand, we are pleased with the improved availability of new therapies. This is a huge advance. In many disease entities, new therapies are increasing every year, and I can say with all responsibility that we are moving in the right direction. Like the rest of Europe and the civilized world, we are increasing their availability. However, the problem with us is good diagnostics, and thanks to it, the detection rate of rare and ultra rare diseases can be higher. There is a need for training of doctors, but also a need...